Chapter 5- Genetic Disorders

Question 1

What is a common example of trinucleotide repeat mutation

Answer 1

Fragile X syndrome

Question 2

What is the mutation in most autosomal dominant disorders

Answer 2

Loss of function mutation

Question 3

What is an example of a urinary autosomal dominant disorder

Answer 3

Polycystic kidney disease

Question 4

What is an example of GI autosomal dominant disorder

Answer 4

Familial polypoid coli

Question 5

What is the largest category of Mendelian disorders

Answer 5

Autosomal recessive

Question 6

What should you think about if there is an autosomal recessive disorder that is rare

Answer 6

Consanguinity

Question 7

What is an example of an X-linked dominant disorder

Answer 7

Vitamin D resistant rickets

Question 8

What antimalarial drug administered to someone with G6PD deficiency can lead to hemolytic anemia

Answer 8

Primaquine

Question 9

What is the mutation in tay Sachs disease

Answer 9

Hexosaminidase

Question 10

What is defective in Marfan syndrome

Answer 10

Fibrillin-1 (FBN-1 gene)

Question 11

What type if murmur is most common with Marfan syndrome

Answer 11

Mitral regurgitation

Question 12

What is the mainstay treatment for Marfan syndrome

Answer 12

Beta blockers

Question 13

What is the most common type of Ehlers-danlos syndrome

Answer 13

Kyphoscoliosis

Question 14

What is the gene defect in classic Ehlers-danlos syndrome

Answer 14

COL5A1, COL5A2

Question 15

What is the clinical findings with classic Ehlers-danlos syndrome

Answer 15

Skin and joint hypermobility, atrophic scars, easy bruising

Question 16

What are the clinical findings with hypermobility (III) Ehlers-danlos syndrome

Answer 16

Joint hypermobility, pain, dislocations

Question 17

What is the defect in vascular (IV) Ehlers-danlos syndrome

Answer 17

COL3A1

Question 18

What is the clinical findings associated with Ehlers-danlos syndrome vascular type (IV)

Answer 18

Thin skin, arterial or uterine rupture, brushing, small joint hyperextensibility

Question 19

What is the defect seen with kyphoscoliosis Ehlers-danlos syndrome

Answer 19

Lysyl hydroxylase

Question 20

What is the clinical findings associated with kyphoscoliosis Ehlers-danlos syndrome

Answer 20

Hypotonia, joint laxity, congenital scoliosis, ocular fragility

Question 21

What is the defect with arthrochalasia Ehlers-danlos syndrome

Answer 21

COL1A1, COL1A2

Question 22

What is the clinical findings associated with arthrocholasia Ehlers-danlos syndrome

Answer 22

Severe joint hypermobility, skin changes (Mild), scoliosis, bruising

Question 23

What is the defect with dermatosparaxis Ehlers-danlos syndrome

Answer 23

Procollagen N-peptidase

Question 24

What are the clinical findings associated with dermatosparaxis Ehlers-danlos syndrome

Answer 24

Severe skin fragility, cutis laxa, bruising

Question 25

Describe class 2 mutation in gene encoding receptor for LDL

Answer 25

Receptor proteins accumulate in ER and cannot be transported to golgi complex

Question 26

Describe class 1 mutation in gene encoding receptor for LDL

Answer 26

Complete failure of synthesis of receptor protein

Question 27

Describe class 3 mutation in gene encoding receptor for LDL

Answer 27

LDL binding domain of the receptor affected

Question 28

Describe class 4 mutation in gene encoding receptor for LDL

Answer 28

Bound LDL is not internalized (encode proteins that are synthesized and transported to the cell surface efficiently, but fault to localize in coated pits_

Question 29

Describe class 5 mutation in gene encoding receptor for LDL

Answer 29

Ph dependent dissociation of receptor and bound LDL fails

Question 30

Who is Tay Sachs particularly common in

Answer 30

Jews

Question 31

What dominates the picture of Tay Sachs disease

Answer 31

Involvement of neurons in CNS and ANS and retinal

Question 32

What lysosomal storage disorder is associated with cherry red spot macula

Answer 32

Tay Sachs

Question 33

What is deficient in sandhoff

Answer 33

Hexosaminidase beta subunit

Question 34

What type of mutation is in Norman pick disease type A

Answer 34

Missense mutation

Question 35

What should you think of with zebra bodies

Answer 35

Type A Neiman pick disease

Question 36

What is the clinical picture with Type A Neimann-pick disease

Answer 36

Progressive failure to thrive, vomiting, fever, generalized lymphadenopathy

Question 37

What is responsible for 95% of cases of Type C Niemann pick disease

Answer 37

NPC1

Question 38

What is the common presentation of type C Niemann pick disease

Answer 38

Marked ataxia, vertical supranuclear gaze palsy, dystopia, dysarthria & psychomotor regression; may have neonatal hepatitis

Question 39

What is the issue with gaucher disease

Answer 39

Mutation in gene encoding glucocerebrosidase

Question 40

What is the most common lysosomal storage disorder

Answer 40

Gaucher disease

Question 41

Where does the glucocerebroside in gaucher disease accumulate

Answer 41

Phacoytes

Question 42

What are some common findings with type 1 gaucher disease

Answer 42

Predilection for Jews; pancytopenia, thrombocytopenia (secondary to hypersplenomegaly); pathology fractures or bone pain

Question 43

What is the only mucopolyaccharidoses that is NOT AR

Answer 43

Hunter syndrome (X-linked recessive)

Question 44

What does hurler syndrome result from deficiency of

Answer 44

Alpha-1 iduronidase

Question 45

What disease is associated with deficiency of muscle phosphorylase

Answer 45

McCardle disease

Question 46

What are the clinical features associated with velocardiofacial syndrome

Answer 46

Facial dysmorphism, cleft palate, CVS anomalies, learning disabilities

Question 47

What psychiatric disorder are individuals with DiGeorge and velocardiofacial syndrome more likely to develop

Answer 47

Schizophrenia

Question 48

What are the 2 most common things seen in Klinefelter syndrome

Answer 48

Reduced spermatogenesis and male infertility

Question 49

What is the most important cause of increased mortality in kids with Turner syndrome

Answer 49

Cardiovascular disease

Question 50

What is the protein issue with spinobulbar muscular atrophy (Kennedy syndrome)

Answer 50

Androgen receptor

Question 51

What is the issue with dentarubral-pallidoluysian atrophy (Haw river syndrome)

Answer 51

Atrophin-1

Question 52

What is the most common phenotypic finding with fragile X syndrome

Answer 52

Macro-orchidism

Question 53

What repeats are increased in fragile X syndrome

Answer 53

CGG

Question 54

What is fragile X tremor/ataxia characterized by

Answer 54

Intention tremor, cerebellar ataxia and may progress to Parkinsonism

Question 55

What is the prototype of mitochondrial inheritance disorder

Answer 55

Leber hereditary optic neuropathy

Question 56

What organs does leber hereditary optic neuropathy have the most effect

Answer 56

Those dependent on ox phos (CNS, skeletal muscle, cardiac muscle, liver and kidney)

Question 57

What is deleted in angelman syndrome

Answer 57

Maternally derived chromosome 15

Question 58

What is deleted in prader willi

Answer 58

Paternally derived Chromosome 15

Question 59

What gene is implicated in angelman syndrome

Answer 59

UBE3A (ubiquitin ligase)

Question 60

When is pyrosequencing most often used

Answer 60

When testing for particular sequence variant

Question 61

She is southern blotting most useful

Answer 61

In detection of certain large trinucleotide expansion diseases

Question 62

When are SNPs used

Answer 62

In linkage analysis for identifying haplotypes associated with disease

Question 63

When are minisatellites and microsatellites routinely used

Answer 63

For paternity tests and criminal investigations

Question 64

What is deficient in Von Gierke?

Answer 64

Glucose-6-phosphatase

Question 65

What is deficient in Pompe?

Answer 65

acid maltase (a-glucosidase)

Question 66

Diseases at increased risk with Down's Syndrome

Answer 66

1. Acute leukemia 2. Alzheimers 3. Congenital heart defects 4. Infections